title: Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales Heath Park, Cardiff.
authors.forename: E
authors.initials: E
authors.lastname: Sorour
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004247:DNA; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human